Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825094 | SCV000966348 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Asn1964Asn in Exon 28 of GPR98: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 2/6656 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS). |
Invitae | RCV001430975 | SCV001633725 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001430975 | SCV004034438 | uncertain significance | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |